Mutagenetix > Incidental Mutation

Incidental Mutation 'R4608:Adam10'

350894

Institutional Source

Beutler Lab

Gene Symbol

Adam10

Ensembl Gene

ENSMUSG00000054693

Gene Name

a disintegrin and metallopeptidase domain 10

Synonyms

kuzbanian, 1700031C13Rik, kuz

MMRRC Submission

041819-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4608 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70586279-70687511 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70651173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 66 (L66P)

Ref Sequence

ENSEMBL: ENSMUSP00000116867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067880] [ENSMUST00000140205] [ENSMUST00000144537]

AlphaFold

O35598

Predicted Effect

probably benign
Transcript: ENSMUST00000067880
AA Change: L209P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000063839
Gene: ENSMUSG00000054693
AA Change: L209P

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Pep_M12B_propep	27	156	7.5e-15	PFAM
Pfam:Reprolysin_5	219	434	1e-33	PFAM
Pfam:Reprolysin_4	219	453	2.1e-29	PFAM
Pfam:Reprolysin	221	457	6.1e-8	PFAM
Pfam:Reprolysin_2	240	447	6.5e-39	PFAM
Pfam:Reprolysin_3	244	395	4.6e-27	PFAM
DISIN	467	551	5.99e-23	SMART
transmembrane domain	675	697	N/A	INTRINSIC
low complexity region	709	739	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000140205
AA Change: L209P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117162
Gene: ENSMUSG00000054693
AA Change: L209P

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Pep_M12B_propep	26	156	5.8e-18	PFAM
Pfam:Reprolysin_5	219	434	2.6e-34	PFAM
Pfam:Reprolysin_4	219	453	4e-30	PFAM
Pfam:Reprolysin	221	457	4.4e-10	PFAM
Pfam:Reprolysin_2	240	447	5.1e-36	PFAM
Pfam:Reprolysin_3	244	395	1.7e-24	PFAM
DISIN	467	513	1.48e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000144537
AA Change: L66P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116867
Gene: ENSMUSG00000054693
AA Change: L66P

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Reprolysin_5	76	145	5.8e-9	PFAM

Meta Mutation Damage Score

0.1538

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (80/80)

MGI Phenotype

FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. The encoded preproprotein undergoes proteolytic processing to generate a mature enzyme that is involved in the proteolytic release of membrane-bound proteins in a process called ectodomain shedding. Mice lacking the encoded protein die in utero with multiple defects of the developing central nervous system, somites, and cardiovascular system. [provided by RefSeq, May 2016]
PHENOTYPE: Targeted inactivation of this gene leads to embryonic lethality at E9.5. Embryos homozygous for a knock-out allele display decreased size and multiple abnormalities related to Notch signaling, including defects of the developing central nervous system, somites, and cardiovascular system. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930022D16Rik	A	G	11: 109,308,855 (GRCm39)	I74V	unknown	Het
Acss3	T	A	10: 106,802,890 (GRCm39)	I452F	possibly damaging	Het
Adamts18	A	T	8: 114,464,245 (GRCm39)	C738S	probably damaging	Het
Adamts7	T	G	9: 90,056,593 (GRCm39)	S221A	probably damaging	Het
Adrm1	A	G	2: 179,816,648 (GRCm39)		probably benign	Het
Aqp1	T	C	6: 55,313,624 (GRCm39)	V50A	possibly damaging	Het
Aqp4	T	C	18: 15,531,183 (GRCm39)	I193V	probably benign	Het
B130006D01Rik	A	T	11: 95,617,066 (GRCm39)		probably benign	Het
Bbs10	T	G	10: 111,136,681 (GRCm39)	I598S	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Ccdc121rt2	A	G	5: 112,597,764 (GRCm39)	S104G	possibly damaging	Het
Ccnl1	C	T	3: 65,854,131 (GRCm39)		probably benign	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcdc2a	T	A	13: 25,245,223 (GRCm39)	L100*	probably null	Het
Eif4g3	G	T	4: 137,853,769 (GRCm39)	R618L	probably benign	Het
F5	C	T	1: 164,036,598 (GRCm39)	P1920S	probably benign	Het
Fam187b	T	A	7: 30,677,170 (GRCm39)	N226K	probably benign	Het
Fancc	C	A	13: 63,479,637 (GRCm39)		probably benign	Het
Fastk	G	T	5: 24,648,117 (GRCm39)	P233H	probably damaging	Het
Fbn1	A	C	2: 125,148,420 (GRCm39)	D2609E	probably benign	Het
Fes	G	A	7: 80,036,959 (GRCm39)	R42W	probably damaging	Het
Fmnl2	T	A	2: 52,993,728 (GRCm39)	N374K	possibly damaging	Het
Fpgt	G	A	3: 154,792,333 (GRCm39)	Q565*	probably null	Het
Gckr	A	G	5: 31,465,141 (GRCm39)	D370G	probably damaging	Het
Ggt6	T	C	11: 72,328,769 (GRCm39)	M385T	probably benign	Het
Gm26657	C	A	4: 56,741,114 (GRCm39)	H100N	probably benign	Het
Gsg1l	T	A	7: 125,557,721 (GRCm39)	I136F	probably damaging	Het
Hhip	C	T	8: 80,724,192 (GRCm39)	R350Q	probably damaging	Het
Ints1	C	T	5: 139,745,599 (GRCm39)	S1353N	probably benign	Het
Ints10	G	A	8: 69,263,271 (GRCm39)	R394Q	probably damaging	Het
Ints6	T	G	14: 62,940,678 (GRCm39)	R557S	probably damaging	Het
Ints9	T	A	14: 65,269,729 (GRCm39)	I473N	possibly damaging	Het
Itih4	G	A	14: 30,623,626 (GRCm39)	G915R	probably damaging	Het
Kif1a	C	A	1: 92,952,368 (GRCm39)	A1304S	possibly damaging	Het
Kif21b	C	T	1: 136,075,924 (GRCm39)		probably benign	Het
Klk13	C	A	7: 43,363,284 (GRCm39)	C10*	probably null	Het
Krtap4-8	C	T	11: 99,671,321 (GRCm39)		probably benign	Het
Lef1	T	C	3: 130,978,382 (GRCm39)	S167P	probably benign	Het
Leng8	T	A	7: 4,147,796 (GRCm39)	I607N	probably damaging	Het
Lrch4	T	A	5: 137,637,408 (GRCm39)	L526*	probably null	Het
Memo1	G	A	17: 74,565,456 (GRCm39)	Q36*	probably null	Het
Nod1	C	A	6: 54,920,741 (GRCm39)	A526S	probably damaging	Het
Nostrin	G	A	2: 69,014,243 (GRCm39)	V400M	possibly damaging	Het
Nrip1	T	C	16: 76,089,920 (GRCm39)	T546A	probably benign	Het
Nxf1	A	G	19: 8,740,127 (GRCm39)	D98G	probably benign	Het
Or13a24	A	G	7: 140,154,554 (GRCm39)	M163V	probably benign	Het
Or1l4	T	A	2: 37,092,094 (GRCm39)	Y280*	probably null	Het
Or2h2b-ps1	A	T	17: 37,481,173 (GRCm39)	V20E	probably damaging	Het
Or2t1	A	G	14: 14,328,887 (GRCm38)	M259V	probably benign	Het
Or4c114	G	T	2: 88,904,656 (GRCm39)	P260T	probably benign	Het
Or6aa1	A	T	7: 86,043,718 (GRCm39)		probably null	Het
Osgep	T	C	14: 51,155,378 (GRCm39)	Y60C	probably damaging	Het
P2ry6	A	G	7: 100,587,511 (GRCm39)	Y283H	probably damaging	Het
Pcdha7	A	T	18: 37,108,870 (GRCm39)	S632C	possibly damaging	Het
Pms1	T	A	1: 53,234,097 (GRCm39)	R806S	possibly damaging	Het
Qars1	T	A	9: 108,386,625 (GRCm39)		probably null	Het
Rxfp1	T	C	3: 79,594,196 (GRCm39)	N66S	probably damaging	Het
Slc12a5	A	T	2: 164,815,685 (GRCm39)	N67I	probably damaging	Het
Slc1a4	G	T	11: 20,254,348 (GRCm39)	T506K	probably damaging	Het
Stimate	C	A	14: 30,594,490 (GRCm39)		probably benign	Het
Tlr9	T	A	9: 106,102,173 (GRCm39)	I488N	probably damaging	Het
Tmem74	G	T	15: 43,730,554 (GRCm39)	T163K	probably damaging	Het
Uba2	T	C	7: 33,854,021 (GRCm39)	D307G	probably damaging	Het
Uty	C	T	Y: 1,131,134 (GRCm39)	R924Q	probably damaging	Het
Wdr7	C	T	18: 63,910,651 (GRCm39)	T681I	probably benign	Het
Xab2	A	G	8: 3,668,105 (GRCm39)	S158P	probably benign	Het
Ythdc1	T	C	5: 86,970,667 (GRCm39)	S418P	probably damaging	Het
Zfand4	T	A	6: 116,305,195 (GRCm39)	C207*	probably null	Het
Zfp367	C	T	13: 64,283,238 (GRCm39)	D305N	probably damaging	Het
Zfp804b	C	T	5: 6,822,584 (GRCm39)	V160I	probably benign	Het

Other mutations in Adam10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Adam10	APN	9	70,626,028 (GRCm39)	missense	possibly damaging	0.92
IGL00582:Adam10	APN	9	70,674,177 (GRCm39)	missense	possibly damaging	0.54
IGL02021:Adam10	APN	9	70,651,191 (GRCm39)	missense	possibly damaging	0.60
IGL02149:Adam10	APN	9	70,610,713 (GRCm39)	missense	probably damaging	1.00
IGL03310:Adam10	APN	9	70,685,371 (GRCm39)	missense	probably damaging	1.00
PIT4382001:Adam10	UTSW	9	70,673,363 (GRCm39)	missense	probably damaging	1.00
R0110:Adam10	UTSW	9	70,655,530 (GRCm39)	missense	probably damaging	1.00
R0469:Adam10	UTSW	9	70,655,530 (GRCm39)	missense	probably damaging	1.00
R0510:Adam10	UTSW	9	70,655,530 (GRCm39)	missense	probably damaging	1.00
R0555:Adam10	UTSW	9	70,661,516 (GRCm39)	missense	probably damaging	1.00
R0671:Adam10	UTSW	9	70,673,223 (GRCm39)	splice site	probably benign
R0735:Adam10	UTSW	9	70,655,533 (GRCm39)	missense	possibly damaging	0.81
R0785:Adam10	UTSW	9	70,675,170 (GRCm39)	missense	possibly damaging	0.86
R0881:Adam10	UTSW	9	70,653,519 (GRCm39)	missense	probably damaging	1.00
R1019:Adam10	UTSW	9	70,668,922 (GRCm39)	missense	probably benign	0.00
R1169:Adam10	UTSW	9	70,653,574 (GRCm39)	missense	probably damaging	0.97
R1779:Adam10	UTSW	9	70,683,651 (GRCm39)	splice site	probably benign
R2048:Adam10	UTSW	9	70,647,357 (GRCm39)	missense	possibly damaging	0.89
R2911:Adam10	UTSW	9	70,626,005 (GRCm39)	missense	probably damaging	0.99
R3890:Adam10	UTSW	9	70,676,136 (GRCm39)	missense	probably benign	0.00
R4609:Adam10	UTSW	9	70,647,425 (GRCm39)	missense	probably damaging	1.00
R4689:Adam10	UTSW	9	70,673,236 (GRCm39)	missense	possibly damaging	0.51
R5135:Adam10	UTSW	9	70,673,356 (GRCm39)	missense	probably damaging	1.00
R5496:Adam10	UTSW	9	70,630,021 (GRCm39)	missense	probably damaging	1.00
R5499:Adam10	UTSW	9	70,647,399 (GRCm39)	missense	probably benign	0.16
R6730:Adam10	UTSW	9	70,647,458 (GRCm39)	critical splice donor site	probably null
R6825:Adam10	UTSW	9	70,668,884 (GRCm39)	missense	probably damaging	1.00
R6987:Adam10	UTSW	9	70,629,978 (GRCm39)	missense	probably benign
R7616:Adam10	UTSW	9	70,629,993 (GRCm39)	missense	possibly damaging	0.81
R7829:Adam10	UTSW	9	70,674,209 (GRCm39)	nonsense	probably null
R7908:Adam10	UTSW	9	70,669,046 (GRCm39)	missense	possibly damaging	0.83
R8445:Adam10	UTSW	9	70,674,203 (GRCm39)	missense	probably benign	0.00
R8447:Adam10	UTSW	9	70,655,400 (GRCm39)	missense	probably damaging	0.97
R8690:Adam10	UTSW	9	70,655,505 (GRCm39)	missense	probably damaging	1.00
R8970:Adam10	UTSW	9	70,655,458 (GRCm39)	missense	probably benign	0.08
X0020:Adam10	UTSW	9	70,647,425 (GRCm39)	missense	probably damaging	1.00
X0064:Adam10	UTSW	9	70,673,234 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTTTGGTGTCCACTAGCCAC -3'
(R):5'- GACTTTCCTATGACACAACTGAAAC -3'

Sequencing Primer
(F):5'- CTAGTGGCCCTTTTATACTATGAGG -3'
(R):5'- GAGCAATCACAGCTTCTC -3'

Posted On

2015-10-08